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Article

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.

JBJS case connector - 1 Jan 2024

Altaf Mir Tariq, Kandagaddala Madhavi, Selina Agnes, Madhuri Vrisha

Abstract excerpt

CASE: Bohring-Opitz syndrome is characterized by facial dysmorphism, intellectual disability, specific upper-limb posturing, and developmental delay. We report a case of 14-year-old girl with bilateral hip pain and loss of mobility. Clinical exome sequencing showed a proband with a heterozygous pathogenic nonsense variant in ASXL1 gene. CONCLUSION: The Perthes-like clinical and radiological features in the hip...

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Source

Identifiers

PMID: 38181165
DOI: 10.2106/JBJS.CC.23.00433

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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